Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R121H

KCNA5

333 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 122–213UCSCBTB/POZ domain
Ion_transaa 249–527UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 5

HGNC Alias Symbols

Kv1.5; HPCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002234.4
p.R121H
c.362G>A
Surrounding Variants
1 paper
NM_002234.4
p.V122F
c.364G>T
2 papers
NM_002234.4
p.Q120P
c.359A>C
1 paper
NM_002234.4
p.H123Y
c.367C>T
1 paper
NM_002234.4
p.H123R
c.368A>G
1 paper
NM_002234.4
p.H123L
c.368A>T
1 paper
NM_002234.4
p.H123Q
c.369C>A
1 paper
NM_002234.4
p.H123Q
c.369C>G
1 paper
NM_002234.4
p.S116F
c.347C>T
1 paper
NM_002234.4
p.I126N
c.377T>A
1 paper
NM_002234.4
p.I126T
c.377T>C
1 paper
NM_002234.4
p.S127_G128ins1
c.381_382insATC
3 papers
NM_002234.4
p.A115V
c.344C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."